ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q11.2(chr15:22833525-23265045)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
NIPA1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
272 | 681 | |
NIPA2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
56 | 389 | |
CYFIP1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
112 | 452 | |
TUBGCP5 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
93 | 417 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 1, 2024 | RCV003885463.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024